Somatic Cell and Sperm Cell Cytogenetics in a Patient with t(14; 21)

TANG Yan-Ping , LIU Xiu-Sheng , LIU Yuan , YANG Zhen-Rong , CHEN Yan , XIONG Cheng-Liang
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引用次数: 3

Abstract

Approximately 15%–20% of clinically recognizable pregnancies end in spontaneous abortion. About half of the spontaneous abortions in the early stage of the pregnancy are due to chromosomal abnormalities. Using GTG chromosome banding and dual-color fluorescence in situ hybridization (FISH) techniques, we determined the cytogenetic aberration in the husband of a couple with spontaneous recurrent abortions. Karyotype analysis showed 46, XX in the wife and 45, XY, −14, −21, +t(14; 21) in the husband. We studied the mechanism of formation of the abnormal chromosome with Robertsonian translocation between chromosomes 14 and 21 by FISH and flow cytometric sorting in the sperm cells. The result showed that 71% of the gametes were balanced and the remaining 29% were not. As a result, the couple was given genetic counseling.

t(14)患者的体细胞和精子细胞遗传学;21)
临床上可识别的妊娠约有15%-20%以自然流产告终。大约一半的自然流产在妊娠早期是由于染色体异常。采用GTG染色体显带和双色荧光原位杂交(FISH)技术,对一对自然复发流产夫妇的丈夫进行了细胞遗传畸变检测。核型分析显示:46,XX在妻子和45,XY,−14,−21,+t(14;在丈夫身上。我们利用FISH和流式细胞分选技术对精子细胞中14和21号染色体发生罗伯逊易位的异常染色体的形成机制进行了研究。结果表明,配子平衡率为71%,不平衡率为29%。结果,这对夫妇接受了遗传咨询。
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